ArticlePloS one2011
Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
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- Genetics of murine type 2 diabetes and comorbidities.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
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- Post-genomic behavioral genetics: From revolution to routine.Genes, brain, and behavior · 2018Review
- Hedgehog-dependent E3-ligase Midline1 regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- A cross-species genetic analysis identifies candidate genes for mouse anxiety and human bipolar disorder.Frontiers in behavioral neuroscience · 2015Article
- Joint genetic analysis of hippocampal size in mouse and human identifies a novel gene linked to neurodegenerative disease.BMC genomics · 2014Article
- Controlling complexity: the clinical relevance of mouse complex genetics.European journal of human genetics : EJHG · 2013Review
- Genetic linkages for thyroxine released in response to thyrotropin stimulation in three sets of recombinant inbred mice provide evidence for shared and novel genes controlling thyroid function.Thyroid : official journal of the American Thyroid Association · 2013Article
- Mouse genetic and phenotypic resources for human genetics.Human mutation · 2012Review
- Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundUnderstanding complex networks that modulate development in humans is hampered by genetic and phenotypic heterogeneity within and between populations. Here we present a method that exploits natural variation in highly diverse mouse genetic reference panels in which genetic and environmental factors can be tightly controlled. The aim of our study is to test a cross-species genetic mapping strategy, which compares data of gene mapping in human patients with functional data obtained by QTL mapping in recombinant inbred mouse strains in order to prioritize human disease candidate genes. METHODOLOGY: We exploit evolutionary conservation of developmental phenotypes to discover gene variants that influence brain development in humans. We studied corpus callosum volume in a recombinant inbred mouse panel (C57BL/6J×DBA/2J, BXD strains) using high-field strength MRI technology. We aligned mouse mapping results for this neuro-anatomical phenotype with genetic data from patients with abnormal corpus callosum (ACC) development. PRINCIPAL
findingsFrom the 61 syndromes which involve an ACC, 51 human candidate genes have been identified. Through interval mapping, we identified a single significant QTL on mouse chromosome 7 for corpus callosum volume with a QTL peak located between 25.5 and 26.7 Mb. Comparing the genes in this mouse QTL region with those associated with human syndromes (involving ACC) and those covered by copy number variations (CNV) yielded a single overlap, namely HNRPU in humans and Hnrpul1 in mice. Further analysis of corpus callosum volume in BXD strains revealed that the corpus callosum was significantly larger in BXD mice with a B genotype at the Hnrpul1 locus than in BXD mice with a D genotype at Hnrpul1 (F = 22.48, p<9.87*10(-5)).
conclusionThis approach that exploits highly diverse mouse strains provides an efficient and effective translational bridge to study the etiology of human developmental disorders, such as autism and schizophrenia.
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